ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2383C>T (p.Gln795Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290100 SCV002581803 likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2022-08-26 criteria provided, single submitter clinical testing

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